ClinVar Miner

Variants studied for Immunodeficiency, common variable, 10

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
7 5 282 295 36 617

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NFKB2 6 5 220 247 30 500
LOC130004599, NFKB2 0 0 46 35 4 85
LOC121815964, NFKB2 0 0 9 6 1 16
LOC130004598, NFKB2 0 0 5 7 1 13
LOC121815964, LOC130004598, LOC130004599, NFKB2 0 0 1 0 0 1
NFKB2, PSD 1 0 0 0 0 1
STIM1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 2 272 292 36 605
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 6 9
OMIM 6 0 0 0 0 6
Samuels research lab, Centre de Recherche du CHU Ste-Justine 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 2
Molecular Genetics Laboratory - Diagnostics Genetics, LabPLUS - Auckland City Hospital 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
3billion 1 0 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 1 0 0 0 0 1

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